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. Author manuscript; available in PMC: 2020 Aug 27.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2019 Jan 28;28(2):293–302. doi: 10.1158/1055-9965.EPI-18-0584

Table 2:

Comparison of detected and missed female BRCA1/2 founder mutation carriers, at the 0.56%, 0.78%, 5%, and 10% carrier-probability thresholds. Comparisons made by:
  • Degree of Ashkenazi-Jewish (AJ) ancestry (½, ¾, or full Ashkenazi-Jewish ancestry);
  • Number of cancer-affected 1st- and 2nd-degree female relatives;
  • Number of cancer-unaffected first-degree female relatives;
  • Volunteer age (minimum, 1st quartile (Q), median, 3rd quartile (Q), maximum, mean, and standard deviation (s.d.) of age given).
  • P-values calculated using the Mann-Whitney nonparametric test.
C-P Threshold 0.56% 0.78% 5% 10%
Mutation Carrier
Classification 		Detected Missed Detected Missed Detected Missed Detected Missed
Degree of Ashkenazi Ancestry ½ AJ 5 1 4 2 3 3 0 6
¾ AJ 6 1 6 1 3 4 2 5
Full AJ 56 5 50 11 28 33 19 42
p-value
(Mann-Whitney) 		0.4 0.6 0.9 0.2
 
# of Affected 1st and 2nd Degree Female Relatives 0 7 6 20 13 10 23 5 28
1 27 1 27 1 16 12 10 18
2 12 0 12 0 7 5 5 7
3 1 0 1 0 1 0 1 0
p-value
(Mann-Whitney) 		0.02 0.0001 0.02 0.02
 
# of Unaffected 1st Degree Female Relatives 0 7 0 7 0 5 2 3 4
1 20 0 17 3 11 9 7 13
2 22 1 19 4 10 13 7 16
≥3 18 6 17 7 8 16 4 20
p-value
(Mann-Whitney) 		0.003 0.05 0.03 0.08
 
Volunteer Age Min 27 45 27 37 29 27 29 27
1st Q. 40.5 51.5 39 52 44 41.2 44 42
Median 48 54 46 53.5 48 48 48 48
3rd Q. 53.5 71.5 53.0 67.3 54.8 54 54 54
Max 80 74 80 74 80 80 80 80
Mean 48.1 59.9 47.6 56.3 49.3 49.1 48.9 49.3
S.d. 11.2 12.0 11.5 10.5 10.7 12.7 10.9 12.2
p-value
(Mann-Whitney) 		0.02 0.006 0.8 0.9